Living with Miller syndrome
A rare condition that mainly affects how the face, arms, and legs develop, including small jaw, cleft palate, and missing pinky fingers and toes.
Understanding Miller syndrome
It varies from person to person. Facial differences can include underdeveloped cheekbones, a small lower jaw, and a cleft palate with or without a cleft lip. These can cause feeding and breathing problems in infants. Many people have small, cup-shaped ears and hearing loss from middle ear differences. The most common limb difference is missing fifth (pinky) fingers and toes. Extra nipples and heart differences have also been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small lower jaw (micrognathia)
- Cleft palate, with or without cleft lip
- Missing pinky fingers and toes, or fused fingers and toes
- Underdeveloped forearm bones
- Small, cup-shaped ears
- Hearing loss from middle ear differences
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, ear, nose, and throat specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in DHODH are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with World Craniofacial Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the DHODH gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: acrofacial dysostosis, genee-wiedemann type; acrofacial dysostosis, genee-wiedmann type; genee-wiedemann acrofacial dysostosis; genee-wiedemann syndrome; mandibulfacial dysostosis with postaxial limb anomalies; mandibulofacial dysostosis with postaxial limb anomalies
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Miller syndrome.
Explore research for Miller syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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